SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Rebelo, Adriana P

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. [electronic resource] - Brain : a journal of neurology 03 2018 - 662-672 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

1460-2156

10.1093/brain/awx369 doi


Adenosine Triphosphate--metabolism
Adult
Animals
Axons--pathology
Carrier Proteins--genetics
Cells, Cultured
Charcot-Marie-Tooth Disease--complications
Child
Copper--deficiency
DNA Mutational Analysis
Electron Transport Complex IV--metabolism
Female
Fibroblasts--metabolism
Humans
Magnetic Resonance Imaging
Male
Mice
Mice, Inbred C57BL
Mice, Transgenic
Mitochondrial Proteins--genetics
Models, Molecular
Molecular Chaperones
Mutation--genetics
Oxygen Consumption--genetics
Sciatic Nerve--metabolism